Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development-Reference-Cited by-同舟云学术

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

Published:2018-06-02 Issue:7 Volume:141 Page:1934-1945
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Nahorski Michael S¹,Maddirevula Sateesh²,Ishimura Ryosuke³,Alsahli Saud²,Brady Angela F⁴,Begemann Anaïs⁵,Mizushima Tsunehiro⁶,Guzmán-Vega Francisco J⁷,Obata Miki³,Ichimura Yoshinobu³,Alsaif Hessa S²,Anazi Shams²,Ibrahim Niema²,Abdulwahab Firdous²,Hashem Mais²,Monies Dorota²⁸,Abouelhoda Mohamed²⁸,Meyer Brian F²⁸,Alfadhel Majid⁹,Eyaid Wafa⁹,Zweier Markus⁵,Steindl Katharina⁵,Rauch Anita⁵¹⁰,Arold Stefan T⁷,Woods C Geoffrey¹,Komatsu Masaaki³,Alkuraya Fowzan S²⁸¹¹

Affiliation:

1. Cambridge Institute for Medical Research, Wellcome Trust MRC Building Addenbrookes Hospital, Hills Rd, Cambridge, UK

2. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

3. Department of Biochemistry, Niigata University Graduate School of Medical and Dental Sciences, Chuo-ku, Niigata, Japan

4. North West Thames Genetics Service, Level 8V, St Mark’s Hospital, Northwick Park Hospital Watford Road, Harrow, UK

5. Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland

6. Picobiology Institute, Graduate School of Life Science, University of Hyogo, Ako-gun, Hyogo, Japan

7. King Abdullah University of Science and Technology, Computational Bioscience Research Center, Division of Biological and Environmental Sciences and Engineering, Thuwal, Saudi Arabia

8. Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia

9. King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia

10. Neuroscience Center Zurich, University of Zurich and ETH Zurich, Zurich, Switzerland

11. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia

Funder

Wellcome Trust

JSPS

NIHR

Japan Society for the Promotion of Science

Takeda Science Foundation

King Abdulaziz City for Science and Technology

King Abdullah University of Science and Technology

Clinical Research Priority Program for Rare Diseases of the University of Zurich

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/141/7/1934/25094546/awy135.pdf

Reference33 articles.

1. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families;Alazami;Cell Rep,2015

2. Autozygome decoded;Alkuraya;Genet Med,2010

3. Discovery of rare homozygous mutations from studies of consanguineous pedigrees;Alkuraya;Curr Protoc Hum Genet,2012

4. The application of next-generation sequencing in the autozygosity mapping of human recessive diseases;Alkuraya;Hum Genet,2013

5. Discovery of mutations for Mendelian disorders;Alkuraya;Hum Genet,2016

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